Neuronal SMN expression corrects spinal muscular atrophy in severe SMA mice while muscle-specific SMN expression has no phenotypic effect

Spinal muscular atrophy (SMA) is caused by loss of the survival motor neuron gene (SMN1) and retention of the SMN2 gene. The copy number of SMN2 affects the amount of SMN protein produced and the severity of the SMA phenotype. While loss of mouse Smn is embryonic lethal, two copies of SMN2 prevents...

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主要な著者: Gavrilina, Tatiana O., McGovern, Vicki L., Workman, Eileen, Crawford, Thomas O., Gogliotti, Rocky G., DiDonato, Christine J., Monani, Umrao R., Morris, Glenn E., Burghes, Arthur H.M.
フォーマット: Artigo
言語:Inglês
出版事項: 2008
主題:
Article
オンライン･アクセス:https://ncbi.nlm.nih.gov/pmc/articles/PMC2835541/
https://ncbi.nlm.nih.gov/pubmed/18178576
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddm379
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